Philip Van Damme

Sex-dependent DNA methylation in amyotrophic lateral sclerosis

The paper identifies seven sex-dependent differentially methylated positions in ALS blood samples, suggesting sex-specific biological mechanisms in the disease.

MeFluHyA: a novel fluorescent screening tool for high-throughput identification of HDAC6-selective inhibitors

The paper introduces MeFluHyA, a fluorescent probe for identifying HDAC6-selective inhibitors through cell imaging and competitive binding assays.

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders

This study identifies digenic inheritance of SPG7 and AFG3L2 mutations as a cause of motor neuron and cerebellar disorders in 17 patients.

Motor System Oligodendroglia Atlas Reveals Activation States Associated with Region-Specific Vulnerability in ALS

The paper creates a single-nucleus transcriptomic atlas of oligodendrocytes in ALS, identifying disease-associated activation states and potential biomarkers.

Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays

This paper develops a deep learning model using SNP microarray data to predict ALS risk with high accuracy across diverse populations and genotyping platforms.

The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications

The paper investigates oligogenic risk in ALS using genome sequencing data, finding that multiple rare variants in known ALS genes increase disease risk but not clinical outcomes.

Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis

The paper identifies sex-associated DNA methylation differences in ALS using a large-scale epigenome-wide association study and links them to survival outcomes.

Amygdala-predominant α-synuclein pathology exacerbates hippocampal neuron loss in Alzheimer's disease

This study shows that amygdala-predominant α-synuclein pathology is linked to reduced hippocampal neuron density in Alzheimer's disease, mediated through pTau and LATE-NC.

Computing Linkage Disequilibrium Aware Genome Embeddings using Autoencoders

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

Antisense oligonucleotide depletion of CCDC146 is a broad-spectrum therapeutic strategy for ALS

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.

PP2A and GSK3 act as modifiers of FUS-ALS by modulating mitochondrial transport

This study identifies PP2A and GSK3 as modifiers of FUS-ALS by modulating mitochondrial transport in Drosophila and human iPSC-derived motor neurons.

Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts

This study analyzes genetic and clinical data from PLS patients to assess the role of genetic testing and identify potential disease-associated variants.

Defective Schwann cell lipid metabolism alters plasma membrane dynamics in Charcot-Marie-Tooth disease 1A

This study identifies defective lipid metabolism in Schwann cells as a cause of CMT1A, showing altered lipid composition and membrane dynamics in mouse models and human iPSC-derived cells.

Large-scale Analyses of CAV1 and CAV2 Suggest Their Expression is Higher in Post-mortem ALS Brain Tissue and Affects Survival

The paper analyzes CAV1 and CAV2 expression in ALS brain tissue and finds higher expression in ALS patients, associated with increased survival and slower disease progression.

SorCS2 binds progranulin and regulates motor axon outgrowth

This study identifies SorCS2 as a receptor for progranulin that regulates motor axon outgrowth in zebrafish and mice, with loss-of-function phenotypes observed in both species.

Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

This study uses molecular dynamics and clinical data to show structural and dynamic differences between WTL and MBR SOD1 variants, linking these to distinct ALS clinical outcomes.

Mutations in the tail domain of the neurofilament heavy chain gene increase the risk of amyotrophic lateral sclerosis

This study identifies NEFH tail domain mutations as risk factors for ALS through meta-analysis and variant burden analysis in case-control studies and whole-genome sequencing data.

Hexanucleotide repeat expansions in C9orf72 alter microglial responses and prevent a coordinated glial reaction in ALS

This study shows that C9orf72 hexanucleotide repeat expansions impair microglial function and disrupt glial communication in ALS, contributing to disease risk.

C21orf2 mutations found in ALS disrupt primary cilia function

This study identifies C21orf2 mutations in ALS as causing cilia dysfunction and impaired sonic hedgehog signaling in motor neurons.

Genome-wide Identification of the Genetic Basis of Amyotrophic Lateral Sclerosis

This study identifies 690 candidate ALS genes using a hierarchical Bayesian model, highlighting genetic convergence on the distal axon and functional significance in motor neurons.

Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3'UTR in Amyotrophic Lateral Sclerosis

The paper identifies non-coding variants in the IL18RAP 3'UTR that reduce ALS risk by modulating neuro-inflammation through NF-κB signaling in microglia.

Human motor units in microfluidic devices are impaired by FUS mutations and improved by HDAC6 inhibition

This study uses a microfluidic model of human motor units to show that FUS mutations impair neurite outgrowth and NMJ formation, which can be mitigated by HDAC6 inhibition.

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

This study shows that C9orf72 repeat expansions produce toxic arginine-rich DPRs that disrupt axonal transport by interacting with microtubules and motor proteins, contributing to ALS/FTD.

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

The paper investigates the relationship between gene expression and brain atrophy in genetic frontotemporal dementia, finding correlations between atrophy patterns and specific gene sets related to vascular, glial, and neuronal functions.

Low frequency and rare coding variation contributes to multiple sclerosis risk

The paper identifies low-frequency coding variants contributing to multiple sclerosis risk using a large case-control study.

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Project MinE analyzes whole-genome sequencing data from ALS patients and controls to study genetic variation and its implications for disease susceptibility.